Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
ORCID
- Julia Baptista: 0000-0003-0915-5028
DOI
10.1002/humu.23938
Publication Date
2020-01-01
Publication Title
Human Mutation
Volume
41
Issue
2
ISSN
1059-7794
Embargo Period
9999-12-31
First Page
403
Last Page
411
Recommended Citation
Cooper, S., Bryen, S., Ewans, L., Pinner, J., MacLennan, S., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A., Hu, Y., Grosmann, C., Malicki, D., Doyle, H., Witting, N., Vissing, J., Claeys, K., Urankar, K., Beleza‐Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., & Udd, B. (2020) 'Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy', Human Mutation, 41(2), pp. 403-411. Available at: https://doi.org/10.1002/humu.23938
